alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.
alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.
复制标题
通过直接分析基因突变来检测 α1-抗胰蛋白酶缺乏症。
作者：
Kidd,VJ;Wallace,RB;Itakura,K;Woo,SL
血浆蛋白酶抑制剂α1-抗胰蛋白酶缺乏可引起慢性阻塞性肺气肿或婴儿肝硬化。这种缺陷是由α1-抗胰蛋白酶基因中G到A的转变产生的单个氨基酸取代引起的。化学合成的特异性寡核苷酸探针（19-mer）已被用于开发一种灵敏和直接的测试在任何个体中的突变基因的存在或不存在，这可用于产前诊断的缺乏综合征。
A deficiency in the plasma protease inhibitorα1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis. This deficiency results from a single amino acid substitution created by a G to A transition in the gene forα1-antitrypsin. Chemically synthesized specific oligonucleotide probes (19-mer) have been used to develop a sensitive and direct test for the presence or absence of the mutant gene in any individual, which can be used for prenatal diagnosis of the deficiency syndrome.